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The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
Immunohistochemistry shows a cytoplasmic localization of FMR–1, and the highest levels were observed in neurons, while glial cells contain very low levels, in epithelial tissues, and in adult testis, FMR-1 was detected only in spermatogonia.
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
The data suggest that a reduction in frataxin results in oxidative damage, given the shared clinical features between Friedreich ataxia, vitamin E deficiency and some mitochondriopathies.
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
The characterization of a monoclonal antibody is reported that selectively recognizes polyglutamine expansion in the proteins implicated in HD and in spinocerebellar ataxia (SCA) 1 and 3 and detects specific pathological proteins expected to contain such expansion.
Structure, localization and transcriptional properties of two classes of retinoic acid receptor alpha fusion proteins in acute promyelocytic leukemia (APL): structural similarities with a new family…
The characterization of Myl and of the reciprocal MylRAR (PMLRAR) and RARMyl (RARPML) fusion transcripts which are found in two classes of APL patients suggest that MyLRAR may interfere in a dominant manner with both MyL and RAR functions.
Transcriptional activity of pannier is regulated negatively by heterodimerization of the GATA DNA-binding domain with a cofactor encoded by the u-shaped gene of Drosophila.
It is shown that both wild-type Pannier and the dominant mutant form activate transcription from the heterologous alpha globin promoter when transfected into chicken embryonic fibroblasts and the results suggest an antagonistic effect of Ush on Pnr function and reveal a new mode of regulation of GATA factors during development.
The N‐terminal part of TIF1, a putative mediator of the ligand‐dependent activation function (AF‐2) of nuclear receptors, is fused to B‐raf in the oncogenic protein T18.
It is proposed that TIF1, which contains several conserved domains found in transcriptional regulatory proteins, is a mediator of ligand‐dependent AF‐2, and the N‐terminal moiety is fused to B‐raf in the mouse oncoprotein T18.
hTAF(II)68, a novel RNA/ssDNA‐binding protein with homology to the pro‐oncoproteins TLS/FUS and EWS is associated with both TFIID and RNA polymerase II.
The cloning and characterization of a novel human TBP‐associated factor, hTAF(II)68, which contains a consensus RNA‐binding domain (RNP‐CS) and binds not only RNA, but also single stranded DNA, is reported.
Characterization of a premeiotic germ cell-specific cytoplasmic protein encoded by Stra8, a novel retinoic acid-responsive gene
Two- dimensional gel analysis and dephosphorylation experiments revealed that the two stereoisomers of RA differentially regulate the phosphorylation status of the Stra8 protein, which was shown to exist in differently phosphorylated forms.
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
To study the HD gene product (huntingtin), monoclonal antibodies raised against four different regions of the protein are developed and detects the huntingtin in perikarya of some neurons, neuropiles, varicosities and as punctate staining likely to be nerve endings.
Expression of Matrix Metalloproteinases during Rat Skin Wound Healing: Evidence that Membrane Type-1 Matrix Metalloproteinase Is a Stromal Activator of Pro-Gelatinase A
- A. Okada, C. Tomasetto, Y. Lutz, J. Bellocq, M. Rio, P. Basset
- BiologyThe Journal of cell biology
- 7 April 1997
Observations, together with the detection of high levels of the mature GelA form in the granulation tissue but not in the regenerating epidermis, suggest that MT1-MMP and GelA contribute to the restoration of connective tissue during rat skin wound healing.